dc.contributor.author | Culliford, R | |
dc.contributor.author | Lawrence, SED | |
dc.contributor.author | Mills, C | |
dc.contributor.author | Tippu, Z | |
dc.contributor.author | Chubb, D | |
dc.contributor.author | Cornish, AJ | |
dc.contributor.author | Browning, L | |
dc.contributor.author | Kinnersley, B | |
dc.contributor.author | Bentham, R | |
dc.contributor.author | Sud, A | |
dc.contributor.author | Pallikonda, H | |
dc.contributor.author | Renal Cancer Genomics England Consortium, | |
dc.contributor.author | Frangou, A | |
dc.contributor.author | Gruber, AJ | |
dc.contributor.author | Litchfield, K | |
dc.contributor.author | Wedge, D | |
dc.contributor.author | Larkin, J | |
dc.contributor.author | Turajlic, S | |
dc.contributor.author | Houlston, RS | |
dc.coverage.spatial | England | |
dc.date.accessioned | 2024-07-29T09:17:40Z | |
dc.date.available | 2024-07-29T09:17:40Z | |
dc.date.issued | 2024-07-15 | |
dc.identifier | 5935 | |
dc.identifier | 10.1038/s41467-024-49692-1 | |
dc.identifier.citation | Nature Communications, 2024, 15 (1), pp. 5935 - | |
dc.identifier.issn | 2041-1723 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/6319 | |
dc.identifier.eissn | 2041-1723 | |
dc.identifier.eissn | 2041-1723 | |
dc.identifier.doi | 10.1038/s41467-024-49692-1 | |
dc.identifier.doi | 10.1038/s41467-024-49692-1 | |
dc.description.abstract | Clear cell renal cell carcinoma (ccRCC) is the most common form of kidney cancer, but a comprehensive description of its genomic landscape is lacking. We report the whole genome sequencing of 778 ccRCC patients enrolled in the 100,000 Genomes Project, providing for a detailed description of the somatic mutational landscape of ccRCC. We identify candidate driver genes, which as well as emphasising the major role of epigenetic regulation in ccRCC highlight additional biological pathways extending opportunities for therapeutic interventions. Genomic characterisation identified patients with divergent clinical outcome; higher number of structural copy number alterations associated with poorer prognosis, whereas VHL mutations were independently associated with a better prognosis. The observations that higher T-cell infiltration is associated with better overall survival and that genetically predicted immune evasion is not common supports the rationale for immunotherapy. These findings should inform personalised surveillance and treatment strategies for ccRCC patients. | |
dc.format | Electronic | |
dc.format.extent | 5935 - | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | NATURE PORTFOLIO | |
dc.relation.ispartof | Nature Communications | |
dc.subject | Carcinoma, Renal Cell | |
dc.subject | Humans | |
dc.subject | Kidney Neoplasms | |
dc.subject | Whole Genome Sequencing | |
dc.subject | Mutation | |
dc.subject | Von Hippel-Lindau Tumor Suppressor Protein | |
dc.subject | Prognosis | |
dc.subject | Male | |
dc.subject | Female | |
dc.subject | DNA Copy Number Variations | |
dc.subject | Middle Aged | |
dc.subject | Epigenesis, Genetic | |
dc.subject | Aged | |
dc.subject | Gene Expression Regulation, Neoplastic | |
dc.subject | Immunotherapy | |
dc.title | Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2024-06-17 | |
dc.date.updated | 2024-07-25T18:50:07Z | |
rioxxterms.version | AM | |
rioxxterms.versionofrecord | 10.1038/s41467-024-49692-1 | |
rioxxterms.licenseref.uri | http://creativecommons.org/licenses/by/4.0/ | |
rioxxterms.licenseref.startdate | 2024-07-15 | |
rioxxterms.type | Journal Article/Review | |
pubs.author-url | https://www.ncbi.nlm.nih.gov/pubmed/39009593 | |
pubs.issue | 1 | |
pubs.organisational-group | ICR | |
pubs.organisational-group | ICR/Primary Group | |
pubs.organisational-group | ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | ICR/Primary Group/ICR Divisions/Clinical Studies | |
pubs.organisational-group | ICR/Primary Group/ICR Divisions/Clinical Studies/Melanoma and Kidney Cancer | |
pubs.organisational-group | ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics | |
pubs.organisational-group | ICR/Students | |
pubs.organisational-group | ICR/Students/PhD and MPhil | |
pubs.organisational-group | ICR/Students/PhD and MPhil/14/15 Starting Cohort | |
pubs.organisational-group | ICR/Students/PhD and MPhil/22/23 Starting Cohort | |
pubs.publication-status | Published online | |
pubs.publisher-url | http://dx.doi.org/10.1038/s41467-024-49692-1 | |
pubs.volume | 15 | |
icr.researchteam | Cancer Genomics | |
icr.researchteam | Melanoma & Kidney Cancer | |
dc.contributor.icrauthor | Culliford, Richard | |
dc.contributor.icrauthor | Cornish, Alexander | |
dc.contributor.icrauthor | Kinnersley, Benjamin | |
dc.contributor.icrauthor | Sud, Amit | |
dc.contributor.icrauthor | Pallikonda, Husayn | |
dc.contributor.icrauthor | Houlston, Richard | |
icr.provenance | Deposited by Dr Amit Sud on 2024-07-25. Deposit type is initial. No. of files: 1. Files: Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.pdf | |